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retinal cone dystrophy 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinal cone dystrophy 4

MONDO:0012507

Also known as:CACNA2D4 cone dystrophycone dystrophy caused by mutation in CACNA2D4retinal cone dystrophy type 4

Overview

Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.

GeneticsAutosomal recessive · CACNA2D4 (chr 12)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Constriction of peripheral visual field, Retinal pigment epithelial mottling, Photophobia, and Reduced visual acuity and 3 more.

Organ System	Phenotype Count	Example Features
Eyes	2	Retinal pigment epithelial mottling, Visual impairment

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CACNA2D4 encodes calcium voltage-gated channel auxiliary subunit alpha2delta 4 (1,137 aa). The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel

Retinal cone dystrophy 4 is associated with mutations in the CACNA2D4 gene on chromosome 12.

CACNA2D4 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.2.

Diagnosis

Genetic testing for CACNA2D4 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for retinal cone dystrophy 4.

1 publication has been identified in PubMed for retinal cone dystrophy 4. Research spans Gene Therapy / Novel Therapeutics (100%).

Recent Publications

Ganglberger M (2025). [PMID: 40129245](https://pubmed.ncbi.nlm.nih.gov/40129245/). *Channels (Austin, Tex.)*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610478

GARD

Genetic and Rare Diseases Info Center

GARD:10650

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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retinal cone dystrophy 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team